You are using an outdated browser. Please upgrade your browser to improve your experience.

growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.
Uniprot Description An autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia.
Mondo Term and Equivalent IDs
MONDO:0014261:  growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
DOID:0111484: 
Orphanet:391348: 
UMLS:C3810001: